Canonical Allele Identifier: CA039159

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 413344
• ClinVar RCV Id: RCV000472238 ; RCV001712314 ; RCV002451155 ; RCV001841382
• dbSNP Id: rs757132095
• ExAC: 7:150656781 G / A
• gnomAD v2: 7-150656781-G-A
• gnomAD v3: 7-150959693-G-A
• gnomAD v4: 7-150959693-G-A
• MyVariant Identifiers: chr7:g.150656781G>A (hg19) ; chr7:g.150959693G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959693G>A , CM000669.2:g.150959693G>A	GRCh38
NC_000007.13:g.150656781G>A , CM000669.1:g.150656781G>A	GRCh37
NC_000007.12:g.150287714G>A	NCBI36
NG_008916.1:g.23234C>T , LRG_288:g.23234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1184C>T
ENST00000262186.10:c.351C>T MANE Select	ENSP00000262186.5:p.Asn117=
ENST00000262186.9:c.351C>T	ENSP00000262186.5:p.Asn117=
ENST00000430723.4:c.174C>T	ENSP00000387657.4:p.Asn58=
ENST00000532957.5:n.574C>T
NM_000238.3:c.351C>T , LRG_288t1:c.351C>T	NP_000229.1:p.Asn117=
NM_172056.2:c.351C>T , LRG_288t2:c.351C>T	NP_742053.1:p.Asn117=
XM_011516185.1:c.51C>T	XP_011514487.1:p.Asn17=
XM_011516186.1:c.351C>T	XP_011514488.1:p.Asn117=
XM_011516185.2:c.51C>T	XP_011514487.1:p.Asn17=
XM_011516186.3:c.351C>T	XP_011514488.1:p.Asn117=
XM_017012195.1:c.201C>T	XP_016867684.1:p.Asn67=
XM_017012196.1:c.174C>T	XP_016867685.1:p.Asn58=
NM_000238.4:c.351C>T MANE Select	NP_000229.1:p.Asn117=